Incidental Mutation 'R4523:Cnot2'
| ID |
334318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnot2
|
| Ensembl Gene |
ENSMUSG00000020166 |
| Gene Name |
CCR4-NOT transcription complex, subunit 2 |
| Synonyms |
2600016M12Rik, 2810470K03Rik |
| MMRRC Submission |
042004-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.899)
|
| Stock # |
R4523 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
116321066-116417416 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 116417379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020374]
[ENSMUST00000105265]
[ENSMUST00000105267]
[ENSMUST00000169576]
[ENSMUST00000168036]
[ENSMUST00000169921]
[ENSMUST00000218490]
[ENSMUST00000218744]
[ENSMUST00000167706]
[ENSMUST00000169507]
|
| AlphaFold |
Q8C5L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000064101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105265
|
| SMART Domains |
Protein: ENSMUSP00000100900
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
310 |
437 |
1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105267
|
| SMART Domains |
Protein: ENSMUSP00000100902
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
396 |
521 |
8.8e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218139
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168036
|
| SMART Domains |
Protein: ENSMUSP00000132315
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
112 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
271 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
354 |
481 |
2.6e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169921
|
| SMART Domains |
Protein: ENSMUSP00000132152
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
312 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
395 |
522 |
1.2e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167706
|
| SMART Domains |
Protein: ENSMUSP00000128837
Gene: ENSMUSG00000020166
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
262 |
N/A |
INTRINSIC |
|
Pfam:NOT2_3_5
|
345 |
472 |
2.5e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219273
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169507
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
G |
T |
5: 67,824,943 (GRCm39) |
T796K |
probably benign |
Het |
| Atr |
T |
C |
9: 95,744,916 (GRCm39) |
S78P |
probably damaging |
Het |
| Calb2 |
C |
T |
8: 110,875,141 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cdca7 |
A |
G |
2: 72,310,042 (GRCm39) |
S77G |
probably damaging |
Het |
| Cfap47 |
A |
T |
X: 78,553,601 (GRCm39) |
N291K |
possibly damaging |
Het |
| Cstf2t |
T |
A |
19: 31,060,482 (GRCm39) |
V6D |
possibly damaging |
Het |
| Cybc1 |
A |
G |
11: 121,114,934 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
T |
C |
2: 180,314,085 (GRCm39) |
I852V |
probably damaging |
Het |
| Dmgdh |
C |
T |
13: 93,825,138 (GRCm39) |
Q154* |
probably null |
Het |
| Dnah12 |
T |
C |
14: 26,491,979 (GRCm39) |
F1138S |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,598,915 (GRCm39) |
A998T |
possibly damaging |
Het |
| Dusp5 |
T |
G |
19: 53,526,032 (GRCm39) |
Y225D |
probably damaging |
Het |
| Fam193a |
G |
A |
5: 34,600,715 (GRCm39) |
D601N |
probably benign |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,715,277 (GRCm39) |
K115R |
probably benign |
Het |
| Gak |
G |
T |
5: 108,724,432 (GRCm39) |
Q1093K |
probably benign |
Het |
| Gm5277 |
G |
T |
3: 78,799,493 (GRCm39) |
|
noncoding transcript |
Het |
| Hgsnat |
A |
G |
8: 26,458,389 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,170,120 (GRCm39) |
T410A |
probably benign |
Het |
| Irag1 |
T |
C |
7: 110,523,048 (GRCm39) |
M338V |
probably benign |
Het |
| Map3k3 |
G |
A |
11: 106,039,694 (GRCm39) |
R278H |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,555,154 (GRCm39) |
|
probably benign |
Het |
| Nectin3 |
C |
A |
16: 46,268,953 (GRCm39) |
R483L |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,496,791 (GRCm39) |
I474T |
probably benign |
Het |
| Optc |
G |
T |
1: 133,831,492 (GRCm39) |
T138K |
possibly damaging |
Het |
| Or7g25 |
T |
C |
9: 19,160,525 (GRCm39) |
T57A |
probably damaging |
Het |
| Or8k22 |
C |
G |
2: 86,163,644 (GRCm39) |
D19H |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pard3 |
C |
T |
8: 128,125,108 (GRCm39) |
P421S |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,653,474 (GRCm39) |
E647D |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,730,006 (GRCm39) |
|
probably benign |
Het |
| Prkce |
G |
T |
17: 86,798,178 (GRCm39) |
|
probably null |
Het |
| Prr12 |
T |
C |
7: 44,697,947 (GRCm39) |
D656G |
unknown |
Het |
| Ptprk |
A |
T |
10: 28,342,048 (GRCm39) |
D485V |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,839,620 (GRCm39) |
L381P |
probably damaging |
Het |
| Rnf144b |
T |
C |
13: 47,361,013 (GRCm39) |
I51T |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,240,711 (GRCm39) |
V118E |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,219,163 (GRCm39) |
G58D |
probably damaging |
Het |
| Slc5a4a |
C |
T |
10: 75,984,196 (GRCm39) |
A46V |
probably damaging |
Het |
| Spmip8 |
T |
A |
8: 96,039,638 (GRCm39) |
Y18* |
probably null |
Het |
| Tgm7 |
C |
A |
2: 120,929,069 (GRCm39) |
|
probably null |
Het |
| Tjap1 |
A |
G |
17: 46,569,718 (GRCm39) |
V424A |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,773,864 (GRCm39) |
I414F |
probably damaging |
Het |
| Tsr3 |
C |
G |
17: 25,460,723 (GRCm39) |
D196E |
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,333 (GRCm39) |
N240K |
probably benign |
Het |
| Xdh |
C |
A |
17: 74,205,339 (GRCm39) |
G1042V |
probably damaging |
Het |
| Zcchc4 |
A |
G |
5: 52,941,409 (GRCm39) |
D68G |
probably damaging |
Het |
|
| Other mutations in Cnot2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Cnot2
|
APN |
10 |
116,342,976 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02433:Cnot2
|
APN |
10 |
116,328,241 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03066:Cnot2
|
APN |
10 |
116,335,262 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03383:Cnot2
|
APN |
10 |
116,330,722 (GRCm39) |
splice site |
probably benign |
|
|
R0145:Cnot2
|
UTSW |
10 |
116,353,273 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0497:Cnot2
|
UTSW |
10 |
116,334,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0615:Cnot2
|
UTSW |
10 |
116,334,141 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1935:Cnot2
|
UTSW |
10 |
116,334,320 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1985:Cnot2
|
UTSW |
10 |
116,363,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2148:Cnot2
|
UTSW |
10 |
116,342,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4063:Cnot2
|
UTSW |
10 |
116,373,301 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4179:Cnot2
|
UTSW |
10 |
116,334,048 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4196:Cnot2
|
UTSW |
10 |
116,337,209 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4572:Cnot2
|
UTSW |
10 |
116,330,751 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4610:Cnot2
|
UTSW |
10 |
116,335,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Cnot2
|
UTSW |
10 |
116,342,215 (GRCm39) |
splice site |
probably null |
|
|
R5847:Cnot2
|
UTSW |
10 |
116,363,851 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6444:Cnot2
|
UTSW |
10 |
116,335,260 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6733:Cnot2
|
UTSW |
10 |
116,334,058 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6734:Cnot2
|
UTSW |
10 |
116,334,058 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6735:Cnot2
|
UTSW |
10 |
116,334,058 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6944:Cnot2
|
UTSW |
10 |
116,373,128 (GRCm39) |
intron |
probably benign |
|
|
R7139:Cnot2
|
UTSW |
10 |
116,330,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7248:Cnot2
|
UTSW |
10 |
116,334,278 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7423:Cnot2
|
UTSW |
10 |
116,328,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Cnot2
|
UTSW |
10 |
116,342,985 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7851:Cnot2
|
UTSW |
10 |
116,373,337 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8245:Cnot2
|
UTSW |
10 |
116,346,294 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8350:Cnot2
|
UTSW |
10 |
116,322,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8463:Cnot2
|
UTSW |
10 |
116,353,236 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9045:Cnot2
|
UTSW |
10 |
116,322,160 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9175:Cnot2
|
UTSW |
10 |
116,334,051 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9229:Cnot2
|
UTSW |
10 |
116,384,960 (GRCm39) |
nonsense |
probably null |
|
|
R9343:Cnot2
|
UTSW |
10 |
116,346,326 (GRCm39) |
missense |
|
|
|
R9508:Cnot2
|
UTSW |
10 |
116,329,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCAAGGACCAGCAGCTG -3'
(R):5'- GTGCTTCTCACGGTCGACTG -3'
Sequencing Primer
(F):5'- CCTCTCTCGATTGGAGCCG -3'
(R):5'- TCACGGTCGACTGGCGTAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation